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Požymis
EMG: myopathic abnormalities
The presence of abnormal electromyographic patterns indicative of myopathy, such as small-short polyphasic motor unit potentials.
Santrauka
- Taip pat vadinama
- EMG: myopathic changes, EMG: myopathy, Myopathic electromyogram
- Kūno sistema
- Abnormality of the musculoskeletal system
EMG: myopathic abnormalitiesHP:0003458
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Read the genes linked to EMG: myopathic abnormalities, and the rest of your genome, with one test.
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Įsigyti savo Genome Test119 genų susiję su EMG: myopathic abnormalities
Šių genų pakitimai sukelia retas ligas, kuriose pasireiškia EMG: myopathic abnormalities. Dauguma žmonių, turinčių šį požymį, neturi nė vienos iš tų ligų, o šiame sąraše esantis genas nieko nesako apie kieno nors paties genomą.
| Genas | Kaip dažnai pasireiškia | Ligos |
|---|---|---|
| BAG3BAG cochaperone 3 | Visada | 1 ligoje |
| COL6A1collagen type VI alpha 1 chain | Visada | 3 ligose |
| DNAJB4DnaJ heat shock protein family (Hsp40) member B4 | Visada | 1 ligoje |
| GIPC1GIPC PDZ domain containing family member 1 | Visada | 1 ligoje |
| HSPB8heat shock protein family B (small) member 8 | Visada | 1 ligoje |
| JPH1junctophilin 1 | Visada | 1 ligoje |
| MPV17mitochondrial inner membrane protein MPV17 | Visada | 1 ligoje |
| MYBPC1myosin binding protein C1 | Visada | 1 ligoje |
| MYH7myosin heavy chain 7 | Visada | 3 ligose |
| RILPL1Rab interacting lysosomal protein like 1 | Visada | 1 ligoje |
| SCO2synthesis of cytochrome C oxidase 2 | Visada | 1 ligoje |
| SGCAsarcoglycan alpha | Visada | 1 ligoje |
| SLC25A4solute carrier family 25 member 4 | Visada | 3 ligose |
| SNUPNsnurportin 1 | Visada | 1 ligoje |
| SQSTM1sequestosome 1 | Visada | 2 ligose |
| TRIM32tripartite motif containing 32 | Visada | 1 ligoje |
| TRIM63tripartite motif containing 63 | Visada | 1 ligoje |
| TUBA4Atubulin alpha 4a | Visada | 2 ligose |
| UNC13Aunc-13 homolog A | Visada | 1 ligoje |
| ACTA1actin alpha 1, skeletal muscle | Labai dažnai (80–99%) | 4 ligose |
| ADSS1adenylosuccinate synthase 1 | Labai dažnai (80–99%) | 1 ligoje |
| CASQ1calsequestrin 1 | Labai dažnai (80–99%) | 1 ligoje |
| COL12A1collagen type XII alpha 1 chain | Labai dažnai (80–99%) | 2 ligose |
| COL6A2collagen type VI alpha 2 chain | Labai dažnai (80–99%) | 2 ligose |
| COL6A3collagen type VI alpha 3 chain | Labai dažnai (80–99%) | 2 ligose |
| FHL1four and a half LIM domains 1 | Labai dažnai (80–99%) | 2 ligose |
| FLNCfilamin C | Labai dažnai (80–99%) | 1 ligoje |
| HNRNPA1heterogeneous nuclear ribonucleoprotein A1 | Labai dažnai (80–99%) | 3 ligose |
| HNRNPA2B1heterogeneous nuclear ribonucleoprotein A2/B1 | Labai dažnai (80–99%) | 1 ligoje |
| JAG2jagged canonical Notch ligand 2 | Labai dažnai (80–99%) | 1 ligoje |
| KBTBD13kelch repeat and BTB domain containing 13 | Labai dažnai (80–99%) | 1 ligoje |
| KLHL41kelch like family member 41 | Labai dažnai (80–99%) | 2 ligose |
| KLHL9kelch like family member 9 | Labai dažnai (80–99%) | 1 ligoje |
| LRP12LDL receptor related protein 12 | Labai dažnai (80–99%) | 1 ligoje |
| MEGF10multiple EGF like domains 10 | Labai dažnai (80–99%) | 1 ligoje |
| MYPNmyopalladin | Labai dažnai (80–99%) | 1 ligoje |
| NEBnebulin | Labai dažnai (80–99%) | 4 ligose |
| ORAI1ORAI calcium release-activated calcium modulator 1 | Labai dažnai (80–99%) | 1 ligoje |
| STIM1stromal interaction molecule 1 | Labai dažnai (80–99%) | 1 ligoje |
| TANGO2transport and golgi organization 2 homolog | Labai dažnai (80–99%) | 1 ligoje |
Rodyti dar 79 genų
| Genas | Kaip dažnai pasireiškia | Ligos |
|---|---|---|
| TIA1TIA1 cytotoxic granule associated RNA binding protein | Labai dažnai (80–99%) | 1 ligoje |
| TPM2tropomyosin 2 | Labai dažnai (80–99%) | 1 ligoje |
| TPM3tropomyosin 3 | Labai dažnai (80–99%) | 3 ligose |
| TRIP4thyroid hormone receptor interactor 4 | Labai dažnai (80–99%) | 1 ligoje |
| VCPvalosin containing protein | Labai dažnai (80–99%) | 2 ligose |
| ABHD5abhydrolase domain containing 5, lysophosphatidic acid acyltransferase | Dažnai (30–79%) | 1 ligoje |
| ACAD9acyl-CoA dehydrogenase family member 9 | Dažnai (30–79%) | 1 ligoje |
| ALDOAaldolase, fructose-bisphosphate A | Dažnai (30–79%) | 1 ligoje |
| ANO5anoctamin 5 | Dažnai (30–79%) | 2 ligose |
| BIN1bridging integrator 1 | Dažnai (30–79%) | 2 ligose |
| CAV3caveolin 3 | Dažnai (30–79%) | 2 ligose |
| CRPPACDP-L-ribitol pyrophosphorylase A | Dažnai (30–79%) | 1 ligoje |
| CRYABcrystallin alpha B | Dažnai (30–79%) | 1 ligoje |
| DNM2dynamin 2 | Dažnai (30–79%) | 2 ligose |
| DNMT3BDNA methyltransferase 3 beta | Dažnai (30–79%) | 1 ligoje |
| DUX4double homeobox 4 | Dažnai (30–79%) | 1 ligoje |
| DUX4L1double homeobox 4 like 1 (pseudogene) | Dažnai (30–79%) | 1 ligoje |
| EMDemerin | Dažnai (30–79%) | 1 ligoje |
| FKRPfukutin related protein | Dažnai (30–79%) | 2 ligose |
| FKTNfukutin | Dažnai (30–79%) | 1 ligoje |
| FRG1FSHD region gene 1 | Dažnai (30–79%) | 1 ligoje |
| GNEglucosamine (UDP-N-acetyl)-2-epimerase/N-acetylmannosamine kinase | Dažnai (30–79%) | 2 ligose |
| GYG1glycogenin 1 | Dažnai (30–79%) | 1 ligoje |
| LMNAlamin A/C | Dažnai (30–79%) | 2 ligose |
| MSTO1misato mitochondrial distribution and morphology regulator 1 | Dažnai (30–79%) | 1 ligoje |
| MTMR14myotubularin related protein 14 | Dažnai (30–79%) | 2 ligose |
| MYF6myogenic factor 6 | Dažnai (30–79%) | 1 ligoje |
| MYH14myosin heavy chain 14 | Dažnai (30–79%) | 1 ligoje |
| MYOTmyotilin | Dažnai (30–79%) | 1 ligoje |
| NEFLneurofilament light chain | Dažnai (30–79%) | 1 ligoje |
| PHKA1phosphorylase kinase regulatory subunit alpha 1 | Dažnai (30–79%) | 1 ligoje |
| PHKG1phosphorylase kinase catalytic subunit gamma 1 | Dažnai (30–79%) | 1 ligoje |
| PLECplectin | Dažnai (30–79%) | 1 ligoje |
| POLGDNA polymerase gamma, catalytic subunit | Dažnai (30–79%) | 3 ligose |
| POLG2DNA polymerase gamma 2, accessory subunit | Dažnai (30–79%) | 1 ligoje |
| POMT1protein O-mannosyltransferase 1 | Dažnai (30–79%) | 1 ligoje |
| RRM2Bribonucleotide reductase regulatory TP53 inducible subunit M2B | Dažnai (30–79%) | 1 ligoje |
| RYR1ryanodine receptor 1 | Dažnai (30–79%) | 2 ligose |
| SGCGsarcoglycan gamma | Dažnai (30–79%) | 1 ligoje |
| SMCHD1structural maintenance of chromosomes flexible hinge domain containing 1 | Dažnai (30–79%) | 1 ligoje |
| SVILsupervillin | Dažnai (30–79%) | 1 ligoje |
| SYNE1spectrin repeat containing nuclear envelope protein 1 | Dažnai (30–79%) | 1 ligoje |
| SYNE2spectrin repeat containing nuclear envelope protein 2 | Dažnai (30–79%) | 1 ligoje |
| TMEM43transmembrane protein 43 | Dažnai (30–79%) | 1 ligoje |
| TNNT1troponin T1, slow skeletal type | Dažnai (30–79%) | 1 ligoje |
| TTNtitin | Dažnai (30–79%) | 4 ligose |
| TWNKtwinkle mtDNA helicase | Dažnai (30–79%) | 2 ligose |
| UNC45Bunc-45 myosin chaperone B | Dažnai (30–79%) | 1 ligoje |
| CDONcell adhesion associated, oncogene regulated | Kartais (5–29%) | 1 ligoje |
| CHCHD10coiled-coil-helix-coiled-coil-helix domain containing 10 | Kartais (5–29%) | 1 ligoje |
| CLCN1chloride voltage-gated channel 1 | Kartais (5–29%) | 1 ligoje |
| CRIPTOcripto, EGF-CFC family member | Kartais (5–29%) | 1 ligoje |
| DHX16DEAH-box helicase 16 | Kartais (5–29%) | 1 ligoje |
| DISP1dispatched RND transporter family member 1 | Kartais (5–29%) | 1 ligoje |
| DLL1delta like canonical Notch ligand 1 | Kartais (5–29%) | 1 ligoje |
| FGF8fibroblast growth factor 8 | Kartais (5–29%) | 1 ligoje |
| FGFR1fibroblast growth factor receptor 1 | Kartais (5–29%) | 1 ligoje |
| FOXH1forkhead box H1 | Kartais (5–29%) | 1 ligoje |
| GAS1growth arrest specific 1 | Kartais (5–29%) | 1 ligoje |
| GLI2GLI family zinc finger 2 | Kartais (5–29%) | 1 ligoje |
| NODALnodal growth differentiation factor | Kartais (5–29%) | 1 ligoje |
| PLOD1procollagen-lysine,2-oxoglutarate 5-dioxygenase 1 | Kartais (5–29%) | 1 ligoje |
| PTCH1patched 1 | Kartais (5–29%) | 1 ligoje |
| SAR1Bsecretion associated Ras related GTPase 1B | Kartais (5–29%) | 1 ligoje |
| SCN4Asodium voltage-gated channel alpha subunit 4 | Kartais (5–29%) | 1 ligoje |
| SHHsonic hedgehog signaling molecule | Kartais (5–29%) | 1 ligoje |
| SIX3SIX homeobox 3 | Kartais (5–29%) | 1 ligoje |
| SUFUSUFU negative regulator of hedgehog signaling | Kartais (5–29%) | 1 ligoje |
| TGIF1TGFB induced factor homeobox 1 | Kartais (5–29%) | 1 ligoje |
| VWA1von Willebrand factor A domain containing 1 | Kartais (5–29%) | 1 ligoje |
| ZIC2Zic family zinc finger 2 | Kartais (5–29%) | 1 ligoje |
| DESdesmin | Neužfiksuota | 1 ligoje |
| DYSFdysferlin | Neužfiksuota | 1 ligoje |
| FXR1FMR1 autosomal homolog 1 | Neužfiksuota | 1 ligoje |
| LAMP2lysosome associated membrane protein 2 | Neužfiksuota | 1 ligoje |
| LARGE1LARGE xylosyl- and glucuronyltransferase 1 | Neužfiksuota | 1 ligoje |
| LDB3LIM domain binding 3 | Neužfiksuota | 1 ligoje |
| TK2thymidine kinase 2 | Neužfiksuota | 1 ligoje |
| TNPO3transportin 3 | Neužfiksuota | 1 ligoje |
Kaip dažnai šis požymis pasitaiko žmonėms, turintiems vieną iš geno sukeliamų ligų, ir kuris dažnis tarp jų didžiausias, pagal Žmogaus fenotipo ontologijos duomenis. Šiuose puslapiuose aprašomi požymiai ir juos grindžiantys tyrimai; tai nėra diagnozė, o su simptomais kreipkitės į gydytoją ar genetikos konsultantą.
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- Žmogaus fenotipo ontologija, 2026-09-01 leidimas: požymis, jo pavadinimai, apibrėžimas ir su juo susiję genai. Daugiau sužinokite svetainėje hpo.jax.org.
- Duomenų leidimas 2026.10.16-c6eea6bf.
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